Cellosaurus logo
expasy logo

Cellosaurus iSCA2-28 (CVCL_XI52)

[Text][XML][JSON]
Cell line name iSCA2-28
Accession CVCL_XI52
Resource Identification Initiative To cite this cell line use: iSCA2-28 (RRID:CVCL_XI52)
Comments Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:10555; ATXN2; Repeat_expansion; p.Gln166[35] (p.Gln166(>=33)); ClinVar=VCV000065668; Zygosity=Heterozygous; Note=The other allele has 22 repeats (PubMed=30718627).
Disease Spinocerebellar ataxia type 2 (NCIt: C148315)
Spinocerebellar ataxia type 2 (ORDO: Orphanet_98756)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_XI51 ! iSCA2-17
Sex of cell Male
Age at sampling 57Y
Category Induced pluripotent stem cell
Publications

PubMed=30718627; DOI=10.1038/s41598-018-37774-2; PMCID=PMC6361947
Ching-Yu Chuang, Chih-Chao Yang, Bing-Wen Soong, Chun-Ying Yu, Shu-Hwa Chen, Hsiang-Po Huang, Hung-Chih Kuo;
Modeling spinocerebellar ataxias 2 and 3 with iPSCs reveals a role for glutamate in disease pathology.
Sci. Rep. 9:1166.1-1166.13(2019)

Cross-references
Encyclopedic resources Wikidata; Q94324108
Entry history
Entry creation19-Dec-2019
Last entry update19-Dec-2024
Version number9